Summary Literature (0)

DOID:0060794 - hypomyelinating leukodystrophy 7 with or without oligodontia and-or hypogonadotropic hypogonadism

Disease Ontology Definition:A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of hildhood onset of progressive motor decline manifest as spasticity, ataxia, tremor, and cerebellar signs, as well as mild cognitive regression that has_material_basis_in homozygous or compound heterozygous mutation in the POLR3A gene on chromosome 10q22.

Synonyms: HLD7, TACH syndrome, ataxia-delayed dentition-hypomyelination syndrome; odontoleukodystrophy, dentoleukoencephalopathy, hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome, leukodystrophy with oligodontia, leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome, tremor-ataxia-central hypomyelination syndrome,

Echinobase Genes : polr3a


OMIM:

MIM:607694 - leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism; hld7

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee